Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

Author:

Scharre Svenja1ORCID,Posset Roland1ORCID,Garbade Sven F.1,Gleich Florian1,Seidl Marie J.1,Druck Ann‐Catrin1,Okun Jürgen G.1,Gropman Andrea L.2,Nagamani Sandesh C. S.3,Hoffmann Georg F.1,Kölker Stefan1,Zielonka Matthias14ORCID,Ah Mew Nicholas,Baumgartner Matthias R.,Berry Gerard T.,Berry Susan A.,Burrage Lindsay,Diaz George A.,Ficicioglu Can,Kisin Genya,Konczal Laura,Lam Christina,McCandless Shawn E.,Merritt J. Lawrence,Schulze Andreas,Walter Magdalena E.,Wilson Ashley,Wong Derek,Arnaudo Florence,Augoustides‐Savvopoulou Persephone,Barić Ivo,Bosch Annet M.,Cano Aline,Chien Yin‐Hsiu,Dionisi‐Vici Carlo,Dobbelaere Dries,Eyskens Francois,Freisinger Peter,Garcia‐Cazorla Angeles,Honzik Tomas,Karall Daniela,Lund Allan M.,Murphy Elaine,Santer René,Schiff Manuel,Skouma Anastasia,Sykut‐Cegielska Jolanta,Wijburg Frits A.,Zeman Jiri,

Affiliation:

1. Division of Pediatric Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany

2. Division of Neurodevelopmental Pediatrics and Neurogenetics, Children's National Health System and The George Washington School of Medicine Washington District of Columbia USA

3. Department of Molecular and Human Genetics Baylor College of Medicine and Texas Children's Hospital Houston Texas USA

4. Heidelberg Research Center for Molecular Medicine (HRCMM) Heidelberg Germany

Funder

Kettering Fund

ASCRS Research Foundation

Universität Heidelberg

Intellectual and Developmental Disabilities Research Center

Baylor College of Medicine

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

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